Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 GeneticVariation disease BEFREE Proinflammatory response induced by the ex vivo mutant cystatin C protein aggregates suggests that vascular inflammation plays an important role in hereditary cerebral hemorrhage with amyloidosis-Icelandic type. 23273574 2013
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 Biomarker disease CTD_human A drastic reduction in the life span of cystatin C L68Q carriers due to life-style changes during the last two centuries. 18566660 2008
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 Biomarker disease BEFREE To evaluate possible cytotoxicity in this condition solubilized cystatin C amyloid extracted from HCHWA-I leptomeninges was applied to cerebral smooth muscle cells in culture and was found to kill the cells. 17963746 2007
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 GeneticVariation disease BEFREE A variant of the cysteine protease inhibitor, cystatin C, forms amyloid deposited in the cerebral vasculature of patients with hereditary cerebral hemorrhage with amyloidosis, Icelandic type (HCHWA-I), leading to cerebral hemorrhages early in life. 16612983 2006
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 GeneticVariation disease BEFREE Distinct properties of wild-type and the amyloidogenic human cystatin C variant of hereditary cerebral hemorrhage with amyloidosis, Icelandic type. 11299325 2001
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 Biomarker disease BEFREE The protein, a mutant of the cysteine protease inhibitor cystatin C, is the amyloid precursor protein in Hereditary Cerebral Hemorrhage with Amyloidosis--Icelandic type (HCHWA-I). 10524281 1999
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 GeneticVariation disease BEFREE Instability of the amyloidogenic cystatin C variant of hereditary cerebral hemorrhage with amyloidosis, Icelandic type. 9565605 1998
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 Biomarker disease GENOMICS_ENGLAND Cystatin C mutation in an elderly man with sporadic amyloid angiopathy and intracerebral hemorrhage. 7482672 1995
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 Biomarker disease BEFREE Cystatin-C is an amyloidogenic protein causing hereditary cerebral haemorrhage with amyloidosis-Icelandic type (HCHWA-I). 8361651 1993
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 GeneticVariation disease UNIPROT Hereditary cystatin C amyloid angiopathy: identification of the disease-causing mutation and specific diagnosis by polymerase chain reaction based analysis. 1352269 1992
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 GermlineCausalMutation disease ORPHANET Stroke in Icelandic patients with hereditary amyloid angiopathy is related to a mutation in the cystatin C gene, an inhibitor of cysteine proteases. 2541223 1989
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 GeneticVariation disease UNIPROT Stroke in Icelandic patients with hereditary amyloid angiopathy is related to a mutation in the cystatin C gene, an inhibitor of cysteine proteases. 2541223 1989
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 Biomarker disease GENOMICS_ENGLAND Molecular cloning and sequence analysis of cDNA coding for the precursor of the human cysteine proteinase inhibitor cystatin C. 3495457 1987
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 CausalMutation disease CLINVAR